Incidental Mutation 'IGL01481:4930590J08Rik'
ID 88596
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol 4930590J08Rik
Ensembl Gene ENSMUSG00000034063
Gene Name RIKEN cDNA 4930590J08 gene
Synonyms LOC381798
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL01481
Quality Score
Status
Chromosome 6
Chromosomal Location 91879790-91927706 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 91910079 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Cysteine at position 523 (S523C)
Ref Sequence ENSEMBL: ENSMUSP00000146101 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000059318] [ENSMUST00000205686]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000059318
AA Change: S523C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000053778
Gene: ENSMUSG00000034063
AA Change: S523C

DomainStartEndE-ValueType
low complexity region 89 109 N/A INTRINSIC
Pfam:FAM194 357 561 4.1e-68 PFAM
low complexity region 626 637 N/A INTRINSIC
transmembrane domain 774 796 N/A INTRINSIC
low complexity region 891 909 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000205686
AA Change: S523C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Apaf1 A T 10: 90,867,450 (GRCm39) D798E possibly damaging Het
Arhgef7 G T 8: 11,865,256 (GRCm39) V410L probably benign Het
Capn7 T C 14: 31,077,296 (GRCm39) L338P probably damaging Het
Cldn17 A G 16: 88,303,471 (GRCm39) V86A probably benign Het
Clec4a2 A G 6: 123,119,459 (GRCm39) N237S probably benign Het
Cmtr1 T G 17: 29,917,631 (GRCm39) I654S probably benign Het
Cryzl2 G A 1: 157,298,309 (GRCm39) probably null Het
Ctif A G 18: 75,744,855 (GRCm39) probably benign Het
Dcaf7 T A 11: 105,945,572 (GRCm39) I307N probably damaging Het
Drosha A T 15: 12,842,525 (GRCm39) T399S probably benign Het
Eef2k A T 7: 120,494,441 (GRCm39) Y35F probably benign Het
Emc1 T C 4: 139,089,410 (GRCm39) S193P probably benign Het
Fpr2 T C 17: 18,113,025 (GRCm39) I7T probably benign Het
Fras1 C A 5: 96,805,100 (GRCm39) N1247K probably damaging Het
Gipr T C 7: 18,893,431 (GRCm39) probably benign Het
Heatr5a C T 12: 52,002,208 (GRCm39) G243S probably damaging Het
Hivep2 G A 10: 14,024,981 (GRCm39) R2265Q probably benign Het
Iars1 T C 13: 49,882,174 (GRCm39) S1073P probably benign Het
Inpp4b T C 8: 82,724,009 (GRCm39) S514P probably damaging Het
Inpp5b T A 4: 124,694,492 (GRCm39) probably null Het
Itga2 C T 13: 114,996,168 (GRCm39) V708I possibly damaging Het
Itih5 A C 2: 10,195,100 (GRCm39) Q164P probably damaging Het
Map3k19 T A 1: 127,750,215 (GRCm39) E1045D probably damaging Het
Mbd5 T C 2: 49,168,951 (GRCm39) V1374A possibly damaging Het
Mrps34 T C 17: 25,116,310 (GRCm39) probably benign Het
Nadsyn1 T C 7: 143,366,321 (GRCm39) D191G probably damaging Het
Nlrc3 T G 16: 3,781,769 (GRCm39) N563H probably damaging Het
Nlrp4c T C 7: 6,103,783 (GRCm39) C906R possibly damaging Het
Or10g6 T C 9: 39,934,574 (GRCm39) M295T possibly damaging Het
Or1j15 T A 2: 36,458,754 (GRCm39) L48H probably damaging Het
Or4a79 A G 2: 89,551,870 (GRCm39) L195P probably damaging Het
Or52u1 C A 7: 104,237,067 (GRCm39) P36T probably damaging Het
Pdgfd C A 9: 6,337,271 (GRCm39) T195K probably null Het
Ptprz1 C A 6: 22,999,979 (GRCm39) Q690K probably benign Het
Scfd1 T A 12: 51,430,903 (GRCm39) M23K probably damaging Het
Scn10a G A 9: 119,438,260 (GRCm39) R1869C probably damaging Het
Scp2 T C 4: 107,931,639 (GRCm39) probably null Het
Sec61a1 A G 6: 88,483,829 (GRCm39) V354A probably benign Het
Sgpp1 T C 12: 75,769,431 (GRCm39) I246V probably benign Het
Slco2a1 G T 9: 102,947,450 (GRCm39) D250Y probably damaging Het
Slit2 A G 5: 48,460,273 (GRCm39) N1435D probably benign Het
Sspo A G 6: 48,425,449 (GRCm39) I23M probably benign Het
Steap4 A T 5: 8,026,858 (GRCm39) T274S probably damaging Het
Tbc1d22b T C 17: 29,787,572 (GRCm39) L107P possibly damaging Het
Tiparp G T 3: 65,460,030 (GRCm39) G442* probably null Het
Tmem45a2 T A 16: 56,867,375 (GRCm39) I109F probably benign Het
Top2a A T 11: 98,901,856 (GRCm39) L458Q probably damaging Het
Tox T A 4: 6,842,396 (GRCm39) T45S probably damaging Het
Vmn2r4 A T 3: 64,313,816 (GRCm39) N388K probably damaging Het
Wdr7 G A 18: 63,872,250 (GRCm39) D395N probably damaging Het
Other mutations in 4930590J08Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01090:4930590J08Rik APN 6 91,896,099 (GRCm39) missense possibly damaging 0.74
IGL01478:4930590J08Rik APN 6 91,911,590 (GRCm39) missense probably benign 0.01
IGL01485:4930590J08Rik APN 6 91,927,003 (GRCm39) missense probably damaging 0.96
IGL01794:4930590J08Rik APN 6 91,895,093 (GRCm39) nonsense probably null
IGL01795:4930590J08Rik APN 6 91,895,093 (GRCm39) nonsense probably null
IGL02040:4930590J08Rik APN 6 91,895,091 (GRCm39) missense probably benign
IGL02171:4930590J08Rik APN 6 91,921,237 (GRCm39) missense probably benign 0.01
IGL02968:4930590J08Rik APN 6 91,900,454 (GRCm39) missense probably damaging 1.00
IGL03358:4930590J08Rik APN 6 91,905,716 (GRCm39) missense probably damaging 1.00
PIT4519001:4930590J08Rik UTSW 6 91,894,038 (GRCm39) missense probably damaging 1.00
R0531:4930590J08Rik UTSW 6 91,892,127 (GRCm39) missense probably benign
R0569:4930590J08Rik UTSW 6 91,919,559 (GRCm39) nonsense probably null
R1536:4930590J08Rik UTSW 6 91,894,016 (GRCm39) missense probably benign 0.20
R1730:4930590J08Rik UTSW 6 91,896,259 (GRCm39) missense possibly damaging 0.60
R1758:4930590J08Rik UTSW 6 91,892,203 (GRCm39) missense possibly damaging 0.79
R1783:4930590J08Rik UTSW 6 91,896,259 (GRCm39) missense possibly damaging 0.60
R1911:4930590J08Rik UTSW 6 91,927,050 (GRCm39) splice site probably benign
R1930:4930590J08Rik UTSW 6 91,892,002 (GRCm39) missense probably benign 0.01
R1936:4930590J08Rik UTSW 6 91,894,061 (GRCm39) missense possibly damaging 0.90
R2157:4930590J08Rik UTSW 6 91,919,468 (GRCm39) missense possibly damaging 0.48
R2157:4930590J08Rik UTSW 6 91,894,679 (GRCm39) splice site probably null
R4072:4930590J08Rik UTSW 6 91,922,342 (GRCm39) splice site probably null
R4662:4930590J08Rik UTSW 6 91,891,939 (GRCm39) missense probably benign
R4900:4930590J08Rik UTSW 6 91,895,091 (GRCm39) missense probably benign
R4936:4930590J08Rik UTSW 6 91,921,245 (GRCm39) missense probably damaging 1.00
R5394:4930590J08Rik UTSW 6 91,896,174 (GRCm39) missense probably benign 0.00
R5887:4930590J08Rik UTSW 6 91,892,124 (GRCm39) nonsense probably null
R5931:4930590J08Rik UTSW 6 91,896,096 (GRCm39) missense probably damaging 1.00
R6174:4930590J08Rik UTSW 6 91,919,517 (GRCm39) missense probably damaging 0.99
R6179:4930590J08Rik UTSW 6 91,919,311 (GRCm39) missense probably damaging 0.96
R6380:4930590J08Rik UTSW 6 91,900,118 (GRCm39) missense probably damaging 1.00
R6531:4930590J08Rik UTSW 6 91,926,980 (GRCm39) missense possibly damaging 0.88
R7570:4930590J08Rik UTSW 6 91,911,591 (GRCm39) missense probably benign 0.03
R7860:4930590J08Rik UTSW 6 91,905,707 (GRCm39) missense probably damaging 1.00
R7936:4930590J08Rik UTSW 6 91,900,445 (GRCm39) nonsense probably null
R7958:4930590J08Rik UTSW 6 91,911,464 (GRCm39) missense probably benign 0.02
R7968:4930590J08Rik UTSW 6 91,922,441 (GRCm39) missense
R8111:4930590J08Rik UTSW 6 91,894,691 (GRCm39) missense probably benign
R8953:4930590J08Rik UTSW 6 91,892,002 (GRCm39) missense probably benign 0.01
R9084:4930590J08Rik UTSW 6 91,892,016 (GRCm39) missense probably damaging 0.97
R9154:4930590J08Rik UTSW 6 91,926,926 (GRCm39) missense probably benign 0.09
R9319:4930590J08Rik UTSW 6 91,922,446 (GRCm39) missense probably damaging 0.97
Posted On 2013-11-18